Abstract
The results of clinical, genealogical, cytogenetic, and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the Seventh Framework Program. The aim of the project is to improve the diagnostics methods of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and genes alterations and to find new candidate genes that cause mental retardation. All patients have a normal chromosome number (46XY or 46XX). The cases with fragile X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis (variations in the number of gene copies). Eleven cases are unknown aberrations. The obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation.
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Original Russian Text © N.V. Hryshchenko, G.M. Bychkova, G.B. Livshyts, S.A. Kravchenko, V.M. Pampukha, O.O. Soloviov, A.M. Kucherenko, P.F. Tatarskyy, N.O. Afanasieva, I.V. Dubrovska, E.J. Patskun, N.O. Zymak-Zakutnia, T.V. Nikitchina, S.Yu. Lohush, L.A. Livshits, 2012, published in Tsitologiya i Genetika, 2012, Vol. 46, No. 1, pp. 62–70.
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Hryshchenko, N.V., Bychkova, G.M., Livshyts, G.B. et al. Clinical genealogical and molecular genetic study of patients with mental retardation. Cytol. Genet. 46, 47–53 (2012). https://doi.org/10.3103/S0095452712010045
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DOI: https://doi.org/10.3103/S0095452712010045